Treacher collins syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Treacher-Collins syndrome | 861 | POLR1C | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| POLR1D | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| TCOF1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| TREACHER COLLINS SYNDROME 2 | C3150983 | POLR1D | Causal Pathogenic evidence from ClinVar | 8955128, 21131976 | ClinVar |
| Franceschetti-Klein syndrome | C0265241 | TCOF1 | Causal Pathogenic evidence from ClinVar | 8894686, 20003452, 20106873, 25790162, 29230583, 30390570, 31307516 | ClinVar |